Brief Lay Background
Infantile nystagmus is a condition where the eyes move uncontrollably, making it difficult for people to focus and see clearly. It is often linked to problems with the development of the retina – the light sensitive cells at the back of the eye.
What problem/knowledge gap does it help address
Two common genetic causes of infantile nystagmus are mutations in the TYR gene, which is also related to albinism, and mutations in the FRMD7 gene, which leads to idiopathic (unexplained) nystagmus.
Despite the known genetic causes, there is a substantial gap in effective therapies that can address the root causes of these disorders.
The lack of an animal model that represents this condition has been a major barrier to testing new drugs. Zebrafish have similar eye structures to humans so can be used to test treatments that may also be effective for those affected by vision disorders.
Aim of the research project
To identify drugs that can improve eye movements in zebrafish models of infantile nystagmus.
Key procedures/objectives
- Conduct a systematic review of the literature to identify potential drug candidates for infantile nystagmus.
- Study and measure the eye movements and visual responses of zebrafish with the causative genes.
- Test and analyse a library of drugs on zebrafish models to determine optimal dosages, timing and effectiveness.
- Share findings with researchers, patient groups and biopharmaceutical companies.
Potential impact on people with sight loss
By identifying effective drug treatments that can be tailored to individual needs, the researcher’s aim to enhance visual acuity and control eye movements, thereby improving daily functioning and quality of life.
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